{
    "disease_id": "DOID:0110587",
    "recommended_name": {
        "id": "DOID:0110587",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110587",
        "name": "autosomal dominant nonsyndromic deafness 66",
        "description": "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the CD164 gene on chromosome 6q21."
    },
    "synonyms": [
        {
            "id": "DOID:0110587",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110587",
            "name": "DFNA66",
            "description": ""
        },
        {
            "id": "DOID:0110587",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110587",
            "name": "autosomal dominant deafness 66",
            "description": ""
        },
        {
            "id": "MONDO:0014854",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014854",
            "name": "autosomal dominant nonsyndromic hearing loss 66",
            "description": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CD164 gene."
        },
        {
            "id": "MONDO:0014854",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014854",
            "name": "CD164 autosomal dominant nonsyndromic deafness",
            "description": ""
        },
        {
            "id": "MONDO:0014854",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014854",
            "name": "DFNA66",
            "description": ""
        },
        {
            "id": "MONDO:0014854",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014854",
            "name": "autosomal dominant deafness 66",
            "description": ""
        },
        {
            "id": "MONDO:0014854",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014854",
            "name": "autosomal dominant nonsyndromic deafness 66",
            "description": ""
        },
        {
            "id": "MONDO:0014854",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014854",
            "name": "autosomal dominant nonsyndromic deafness caused by mutation in CD164",
            "description": ""
        },
        {
            "id": "MONDO:0014854",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014854",
            "name": "autosomal dominant nonsyndromic deafness type 66",
            "description": ""
        },
        {
            "id": "MONDO:0014854",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014854",
            "name": "deafness, autosomal dominant 66",
            "description": ""
        },
        {
            "id": "MONDO:0014854",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014854",
            "name": "deafness, autosomal dominant type 66",
            "description": ""
        },
        {
            "id": "MIM:616969",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616969",
            "name": "Deafness, autosomal dominant, 66",
            "description": "Deafness, autosomal dominant, 66"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110587"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110587",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110587",
            "categories": []
        },
        {
            "id": "MONDO:0014854",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014854",
            "categories": []
        },
        {
            "id": "MIM:616969",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616969",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9R0L9-1",
            "uniprot_ac": "Q9R0L9",
            "uniprot_id": "MUC24_MOUSE",
            "refseq_ac": "NP_058594",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sialomucin core protein 24",
                    "type": "recommended"
                },
                {
                    "name": "Endolyn",
                    "type": "synonym"
                },
                {
                    "name": "MGC-24v",
                    "type": "synonym"
                },
                {
                    "name": "MGC-24",
                    "type": "synonym"
                },
                {
                    "name": "MUC-24",
                    "type": "synonym"
                },
                {
                    "name": "Multi-glycosylated core protein 24",
                    "type": "synonym"
                },
                {
                    "name": "c-Myc binding protein",
                    "type": "synonym"
                },
                {
                    "name": "endolyn",
                    "type": "synonym"
                },
                {
                    "name": "multi-glycosylated core protein 24",
                    "type": "synonym"
                },
                {
                    "name": "sialomucin core protein 24 precursor",
                    "type": "synonym"
                },
                {
                    "name": "sialomucin core protein 24",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cd164",
                    "type": "recommended"
                },
                {
                    "name": "A115",
                    "type": "synonym"
                },
                {
                    "name": "A24",
                    "type": "synonym"
                },
                {
                    "name": "Cd164",
                    "type": "synonym"
                },
                {
                    "name": "MGC-24",
                    "type": "synonym"
                },
                {
                    "name": "MSSP",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9R0L9-1",
            "evidence": [
                {
                    "id": "0110587",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110587"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q04900-1",
            "uniprot_ac": "Q04900",
            "uniprot_id": "MUC24_HUMAN",
            "refseq_ac": "NP_001333429",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sialomucin core protein 24",
                    "type": "recommended"
                },
                {
                    "name": "CD164 antigen, sialomucin",
                    "type": "synonym"
                },
                {
                    "name": "Endolyn",
                    "type": "synonym"
                },
                {
                    "name": "MGC-24v",
                    "type": "synonym"
                },
                {
                    "name": "MGC-24",
                    "type": "synonym"
                },
                {
                    "name": "MUC-24",
                    "type": "synonym"
                },
                {
                    "name": "Multi-glycosylated core protein 24",
                    "type": "synonym"
                },
                {
                    "name": "multi-glycosylated core protein 24",
                    "type": "synonym"
                },
                {
                    "name": "sialomucin core protein 24 isoform 6",
                    "type": "synonym"
                },
                {
                    "name": "sialomucin core protein 24",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CD164",
                    "type": "recommended"
                },
                {
                    "name": "CD164",
                    "type": "synonym"
                },
                {
                    "name": "DFNA66",
                    "type": "synonym"
                },
                {
                    "name": "MGC-24v",
                    "type": "synonym"
                },
                {
                    "name": "MGC-24",
                    "type": "synonym"
                },
                {
                    "name": "MUC-24",
                    "type": "synonym"
                },
                {
                    "name": "endolyn",
                    "type": "synonym"
                }
            ],
            "record_id": "Q04900-1",
            "evidence": [
                {
                    "id": "616969",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616969"
                },
                {
                    "id": "0110587",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110587"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9QX82-1",
            "uniprot_ac": "Q9QX82",
            "uniprot_id": "MUC24_RAT",
            "refseq_ac": "NP_114000",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sialomucin core protein 24",
                    "type": "recommended"
                },
                {
                    "name": "CD164 antigen",
                    "type": "synonym"
                },
                {
                    "name": "CD164 molecule, sialomucin",
                    "type": "synonym"
                },
                {
                    "name": "Endolyn",
                    "type": "synonym"
                },
                {
                    "name": "MGC-24v",
                    "type": "synonym"
                },
                {
                    "name": "MGC-24",
                    "type": "synonym"
                },
                {
                    "name": "MUC-24",
                    "type": "synonym"
                },
                {
                    "name": "Multi-glycosylated core protein 24",
                    "type": "synonym"
                },
                {
                    "name": "endolyn",
                    "type": "synonym"
                },
                {
                    "name": "multi-glycosylated core protein 24",
                    "type": "synonym"
                },
                {
                    "name": "sialomucin core protein 24 precursor",
                    "type": "synonym"
                },
                {
                    "name": "sialomucin core protein 24",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cd164",
                    "type": "recommended"
                },
                {
                    "name": "Cd164",
                    "type": "synonym"
                },
                {
                    "name": "MGC-24v",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9QX82-1",
            "evidence": [
                {
                    "id": "0110587",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110587"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M9PHX2-1",
            "uniprot_ac": "M9PHX2",
            "uniprot_id": "M9PHX2_DROME",
            "refseq_ac": "NP_001261646",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG16707-PE",
                    "type": "synonym"
                },
                {
                    "name": "Visgun, isoform E",
                    "type": "synonym"
                },
                {
                    "name": "endolyn",
                    "type": "synonym"
                },
                {
                    "name": "visgun, isoform E",
                    "type": "synonym"
                },
                {
                    "name": "visgun",
                    "type": "synonym"
                },
                {
                    "name": "vsg-PE",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "vsg",
                    "type": "recommended"
                },
                {
                    "name": "BEST:GH15083",
                    "type": "synonym"
                },
                {
                    "name": "CG16707",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG16707",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG16707",
                    "type": "synonym"
                },
                {
                    "name": "GH15083",
                    "type": "synonym"
                },
                {
                    "name": "Vsg",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0118547.164",
                    "type": "synonym"
                },
                {
                    "name": "vsg",
                    "type": "synonym"
                }
            ],
            "record_id": "M9PHX2-1",
            "evidence": [
                {
                    "id": "0110587",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110587"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110587"
}